NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) AND not specified

Clinical significance:Likely benign (Last evaluated: Oct 17, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000222566.5

Allele description [Variation Report for NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)]

NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)

Genes:
TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.2
Genomic location:
Preferred name:
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
HGVS:
  • NC_000002.12:g.178533511T>C
  • NG_011618.3:g.302292A>G
  • NG_051363.1:g.15685T>C
  • NM_001256850.1:c.98181A>G
  • NM_001267550.2:c.103104A>GMANE SELECT
  • NM_003319.4:c.75909A>G
  • NM_133378.4:c.95400A>G
  • NM_133432.3:c.76284A>G
  • NM_133437.4:c.76485A>G
  • NP_001243779.1:p.Leu32727=
  • NP_001254479.2:p.Leu34368=
  • NP_003310.4:p.Leu25303=
  • NP_596869.4:p.Leu31800=
  • NP_597676.3:p.Leu25428=
  • NP_597681.4:p.Leu25495=
  • LRG_391:g.302292A>G
  • NC_000002.11:g.179398238T>C
  • NM_001256850.1:c.98181A>G
  • NP_596869.4:p.(=)
  • p.Leu31800Leu
Links:
dbSNP: rs371535721
NCBI 1000 Genomes Browser:
rs371535721
Molecular consequence:
  • NM_001256850.1:c.98181A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001267550.2:c.103104A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003319.4:c.75909A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133378.4:c.95400A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133432.3:c.76284A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_133437.4:c.76485A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000271124Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jun 30, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002014951Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely benign
(Oct 17, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000271124.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Leu31800Leu in exon 307 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 6/66652 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002014951.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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